This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507624.1:p.[Thr1973Pro;Val1975_Phe1976del;Asp1978_Gly1979del;Thr1981_Ser1984delinsLeu;Lys1986_Phe1990delinsAsp;Asp1992_Ile1995del;Lys1997_Gly2002delinsGlyPhePro]
CA2078628345
ENST00000683270.1:c.5916del